ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu)

gnomAD frequency: 0.00001  dbSNP: rs1168801973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264600 SCV002543362 uncertain significance Autoinflammatory syndrome 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV003095932 SCV003493862 uncertain significance Vasculitis due to ADA2 deficiency 2022-07-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 405 of the ADA2 protein (p.Ile405Leu). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with systemic autoinflammatory disease (PMID: 30783801). This variant is present in population databases (no rsID available, gnomAD 0.3%).

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